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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:dilated cardiomyopathy 1D
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Accession:DOID:0110426 term browser browse the term
Definition:A dilated cardiomyopathy that has_material_basis_in mutation in the TNNT2 gene on chromosome 1q32. (DO)
Synonyms:exact_synonym: CMD1D
 narrow_synonym: LEFT VENTRICULAR NONCOMPACTION 6;   LVNC6
 primary_id: MESH:C563306
 alt_id: OMIM:601494;   RDO:0012603
For additional species annotation, visit the Alliance of Genome Resources.



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dilated cardiomyopathy 1D term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tnnt2 troponin T2, cardiac type ISO ClinVar Annotator: match by OMIM:601494
ClinVar Annotator: match by term: Left ventricular noncompaction 6
ClinVar Annotator: match by term: Dilated cardiomyopathy 1D
OMIM
ClinVar
PMID:2003160 PMID:2946667 PMID:7898523 PMID:8205619 PMID:8951566 More... NCBI chr13:47,267,325...47,285,390
Ensembl chr13:47,267,204...47,285,388
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17251
    disease of anatomical entity 16595
      cardiovascular system disease 4520
        heart disease 2697
          Cardiomegaly 676
            dilated cardiomyopathy 301
              dilated cardiomyopathy 1D 1
Path 2
Term Annotations click to browse term
  disease 17251
    Developmental Disease 10960
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9494
        genetic disease 8999
          monogenic disease 7165
            autosomal genetic disease 6315
              autosomal dominant disease 4479
                dilated cardiomyopathy 1D 1
paths to the root